Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction

Blood. 2009 Nov 5;114(19):4045-53. doi: 10.1182/blood-2008-08-169474. Epub 2009 Sep 4.

Abstract

Recent reports describe hematopoietic abnormalities in mice with targeted instability of the mitochondrial genome. However, these abnormalities have not been fully described. We demonstrate that mutant animals develop an age-dependent, macrocytic anemia with abnormal erythroid maturation and megaloblastic changes, as well as profound defects in lymphopoiesis. Mice die of severe fatal anemia at 15 months of age. Bone-marrow transplantation studies demonstrate that these abnormalities are intrinsic to the hematopoietic compartment and dependent upon the age of donor hematopoietic stem cells. These abnormalities are phenotypically similar to those found in patients with refractory anemia, suggesting that, in some cases, the myelodysplastic syndromes are caused by abnormalities of mitochondrial function.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Anemia, Megaloblastic / etiology*
  • Anemia, Megaloblastic / genetics
  • Anemia, Megaloblastic / pathology
  • Animals
  • Bone Marrow Transplantation
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics
  • Disease Models, Animal
  • Erythroid Cells / pathology
  • Erythropoiesis / genetics
  • Genome, Mitochondrial
  • Humans
  • Lymphopoiesis* / genetics
  • Mice
  • Mice, Mutant Strains
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Myelodysplastic Syndromes / etiology*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / pathology
  • Point Mutation

Substances

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • Polg protein, mouse